Progression of Aggressive Metastatic Carcinosarcoma After Treatment of Epithelioid Osteosarcoma

Osteosarcoma is the most common primary malignant osseous neoplasm, constituting approximately 35% of skeletal malignancies. The different subtypes of osteosarcoma are differentiated based on clinical, histologic, and radiographic data, as well as the variable amount of osteoid produced by malignant cells. The epithelioid osteosarcoma subtype accounts for only 5.7% of all osteosarcomas and portends an extremely poor prognosis. The 5-year survival rate for patients with epithelioid osteosarcoma treated with surgery (with or without chemotherapy) is 13.5%. This is in direct contrast to the >70% ten-year survival rate of conventional osteosarcoma treated with surgery and chemotherapy. This article presents a fatal case of epithelioid osteosarcoma in an 11-year-old girl with right knee pain of 6 months' duration. Biopsy demonstrated morphologic findings consistent with high-grade osteosarcoma with epithelioid features. The epithelioid component was positive for vimentin and CD99; however, fluorescent in situ hybridization for the (11;22) translocation was negative. In this case, the epithelioid cells failed to respond to conventional or subsequent experimental chemotherapy for osteosarcoma and eventual metastasized to the lymph nodes and lungs despite multiple ablative surgeries. This case report supports the concept of carcinosarcoma with malignant cells lines arising from 2 different cellular lineages or a common cellular precursor. The epithelial component was more aggressive than the cells of mesenchymal origin, highlighting the need for continued research and a more favorable outcome for this rare subset of osteosarcoma.